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DOID:0060541 - Hermansky-Pudlak syndrome 3
Disease Ontology Definition:A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24.
Synonyms:
Xenbase Genes : hps3
MONDO:0013555 - Hermansky-Pudlak syndrome 3 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Hermansky-Pudlak syndrome (is_a)